Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520014
rs1057520014
A 0.700 GeneticVariation CLINVAR FMS mutations in myelodysplastic, leukemic, and normal subjects. 2406720

1990

dbSNP: rs121913390
rs121913390
G 0.700 GeneticVariation CLINVAR FMS mutations in myelodysplastic, leukemic, and normal subjects. 2406720

1990

dbSNP: rs121913393
rs121913393
G 0.700 GeneticVariation CLINVAR FMS mutations in myelodysplastic, leukemic, and normal subjects. 2406720

1990

dbSNP: rs1801271
rs1801271
C 0.700 GeneticVariation CLINVAR FMS mutations in myelodysplastic, leukemic, and normal subjects. 2406720

1990

dbSNP: rs1801271
rs1801271
A 0.700 GeneticVariation CLINVAR FMS mutations in myelodysplastic, leukemic, and normal subjects. 2406720

1990

dbSNP: rs121913512
rs121913512
KIT
G 0.700 GeneticVariation CLINVAR STI571 inactivation of the gastrointestinal stromal tumor c-KIT oncoprotein: biological and clinical implications. 11526490

2001

dbSNP: rs61754966
rs61754966
NBN
0.010 GeneticVariation BEFREE We screened healthy controls and pediatric patients with hematological malignancies and aplastic anemia (AA) for the presence of I171V. 15338273

2004

dbSNP: rs3745274
rs3745274
0.010 GeneticVariation BEFREE This study demonstrates for the first time that the presence of the CYP2B6 G516T mutation increases the rate of 4-OH-CPA formation in patients with hematological malignancies. 16183265

2006

dbSNP: rs121913506
rs121913506
KIT
C 0.700 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006

dbSNP: rs121913506
rs121913506
KIT
T 0.700 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006

dbSNP: rs121913615
rs121913615
MPL
T 0.700 GeneticVariation CLINVAR MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. 16834459

2006

dbSNP: rs1114167651
rs1114167651
0.010 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007

dbSNP: rs121918453
rs121918453
0.010 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007

dbSNP: rs121918454
rs121918454
0.010 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007

dbSNP: rs121918464
rs121918464
0.010 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007

dbSNP: rs1239105602
rs1239105602
0.010 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007

dbSNP: rs397507514
rs397507514
0.010 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007

dbSNP: rs562015640
rs562015640
0.010 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007

dbSNP: rs779530981
rs779530981
0.010 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007

dbSNP: rs917927904
rs917927904
0.010 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007

dbSNP: rs104894226
rs104894226
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660

2007

dbSNP: rs112445441
rs112445441
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660

2007

dbSNP: rs121434596
rs121434596
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660

2007

dbSNP: rs757333753
rs757333753
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660

2007

dbSNP: rs770692189
rs770692189
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660

2007